Niall Lennon1, Kim Doheny2, Donna Muzny3, Christina Lockwood4, Ginger Metcalf3 on behalf of the members of the All of Us Regulatory Working Group
1Broad Institute of MIT and Harvard, Cambridge, MA; 2Johns Hopkins University, Baltimore, MD; 3Baylor College of Medicine, Houston TX; 4Northwest Genomics Center, University of Washington, WA
The All of Us Research Program (AoURP) is a large collaborative initiative sponsored by the National Institutes of Health (NIH) with a primary objective of building a research resource composed of participant-provided information (PPI), including environmental, physiologic, and health data and biospecimens from 1 million or more research participants who reflect the diversity of the U.S. Participants are also invited to undergo physical measurements and provide biospecimens from which genomic information and other biomarkers will be derived.
A core value of the program is that participants will have access to their data and that they may receive information potentially relevant to their own health. To this end, the program will include a return of results arm, in which predispositions to the development of certain diseases will be assessed through examination of a panel of genes (termed the AoU Medically Actionable Panel) and high confidence pharmacogenetic variants. Primary testing will involve Whole Genome Sequencing (WGS) as well as a custom genotyping array (AoU Array). Both assays have been validated as lab-developed tests (LDTs) by a group of CAP/CLIA certified clinical labs in genome centers across the US (Broad Institute, Baylor College of Medicine, Johns Hopkins, and the UW Northwest Genome Center).
Since health-related and potentially actionable information is being returned to healthy individuals who have not had a physician-ordered clinical test for a specific condition, the US FDA has determined that this represents a high risk activity and therefore requires an Investigational Device Exemption (IDE). We present here the process of navigating the IDE pre-submission and submission process for this large, multi-center genomic testing project.